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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-69965143-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=69965143&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 69965143,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000352241.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1476C>A",
"hgvs_p": "p.Pro492Pro",
"transcript": "NM_001354604.2",
"protein_id": "NP_001341533.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 526,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": "ENST00000352241.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1476C>A",
"hgvs_p": "p.Pro492Pro",
"transcript": "ENST00000352241.9",
"protein_id": "ENSP00000295600.8",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 526,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": "NM_001354604.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1155C>A",
"hgvs_p": "p.Pro385Pro",
"transcript": "NM_000248.4",
"protein_id": "NP_000239.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 419,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": "ENST00000394351.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1155C>A",
"hgvs_p": "p.Pro385Pro",
"transcript": "ENST00000394351.9",
"protein_id": "ENSP00000377880.3",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 419,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": "NM_000248.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1137C>A",
"hgvs_p": "p.Pro379Pro",
"transcript": "ENST00000314557.10",
"protein_id": "ENSP00000324246.6",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 413,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.969C>A",
"hgvs_p": "p.Pro323Pro",
"transcript": "ENST00000531774.1",
"protein_id": "ENSP00000435909.1",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 357,
"cds_start": 969,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 1074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1473C>A",
"hgvs_p": "p.Pro491Pro",
"transcript": "NM_001354605.2",
"protein_id": "NP_001341534.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 525,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1458C>A",
"hgvs_p": "p.Pro486Pro",
"transcript": "NM_198159.3",
"protein_id": "NP_937802.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 520,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1458C>A",
"hgvs_p": "p.Pro486Pro",
"transcript": "ENST00000642352.1",
"protein_id": "ENSP00000494105.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 520,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 4767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1455C>A",
"hgvs_p": "p.Pro485Pro",
"transcript": "NM_001354606.2",
"protein_id": "NP_001341535.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 519,
"cds_start": 1455,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1455C>A",
"hgvs_p": "p.Pro485Pro",
"transcript": "NM_006722.3",
"protein_id": "NP_006713.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 519,
"cds_start": 1455,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 4675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1455C>A",
"hgvs_p": "p.Pro485Pro",
"transcript": "ENST00000448226.9",
"protein_id": "ENSP00000391803.3",
"transcript_support_level": 5,
"aa_start": 485,
"aa_end": null,
"aa_length": 519,
"cds_start": 1455,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 4675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1410C>A",
"hgvs_p": "p.Pro470Pro",
"transcript": "NM_198177.3",
"protein_id": "NP_937820.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 504,
"cds_start": 1410,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 4666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1410C>A",
"hgvs_p": "p.Pro470Pro",
"transcript": "ENST00000314589.11",
"protein_id": "ENSP00000324443.5",
"transcript_support_level": 2,
"aa_start": 470,
"aa_end": null,
"aa_length": 504,
"cds_start": 1410,
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"cdna_start": 1477,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1407C>A",
"hgvs_p": "p.Pro469Pro",
"transcript": "NM_001354607.2",
"protein_id": "NP_001341536.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 503,
"cds_start": 1407,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 4910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1407C>A",
"hgvs_p": "p.Pro469Pro",
"transcript": "ENST00000687384.1",
"protein_id": "ENSP00000510225.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 503,
"cds_start": 1407,
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"cdna_start": 1729,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1383C>A",
"hgvs_p": "p.Pro461Pro",
"transcript": "ENST00000693031.1",
"protein_id": "ENSP00000509845.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 495,
"cds_start": 1383,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Pro434Pro",
"transcript": "NM_001184967.2",
"protein_id": "NP_001171896.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 468,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 4732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Pro434Pro",
"transcript": "NM_001354608.2",
"protein_id": "NP_001341537.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 468,
"cds_start": 1302,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Pro434Pro",
"transcript": "ENST00000472437.5",
"protein_id": "ENSP00000418845.1",
"transcript_support_level": 2,
"aa_start": 434,
"aa_end": null,
"aa_length": 468,
"cds_start": 1302,
"cds_end": null,
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"cdna_start": 1491,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1137C>A",
"hgvs_p": "p.Pro379Pro",
"transcript": "NM_198158.3",
"protein_id": "NP_937801.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 413,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 4457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.969C>A",
"hgvs_p": "p.Pro323Pro",
"transcript": "NM_198178.3",
"protein_id": "NP_937821.2",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 357,
"cds_start": 969,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 4289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "n.*802C>A",
"hgvs_p": null,
"transcript": "ENST00000478490.5",
"protein_id": "ENSP00000433487.1",
"transcript_support_level": 5,
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},
{
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{
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},
{
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}
],
"gene_symbol": "MITF",
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": -0.699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000352241.9",
"gene_symbol": "MITF",
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"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1476C>A",
"hgvs_p": "p.Pro492Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}